Effects of five-minute internet-based cognitive behavioral therapy and simplified emotion-focused mindfulness on depressive symptoms: a randomized controlled trial.

Background: Notwithstanding a high expectation for internet-based cognitive behavioral therapy (iCBT) for reducing depressive symptoms, many of iCBT programs have limitations such as temporary effects and high drop-out rates, possibly due to their complexity. We examined the effects of a free, simplified, 5-minute iCBT program by comparing it with a simplified emotion-focused mindfulness (sEFM) exercise and with a waiting list control group.

Methods: A total of 974 participants, who were recruited using the website of a market research company, were randomly assigned to the iCBT group, the sEFM group, and the control group.

Assessment of Autistic Traits in Children Aged 2 to 4½ Years With the Preschool Version of the Social Responsiveness Scale (SRS-P): Findings from Japan.

The recent development and use of autism measures for the general population has led to a growing body of evidence which suggests that autistic traits are distributed along a continuum. However, as most existing autism measures were designed for use in children older than age 4, to date, little is known about the autistic continuum in children younger than age 4. As autistic symptoms are evident in the first few years, to address this research gap, the current study tested the preschool version of the Social Responsiveness Scale (SRS-P) in children aged 2 to 4½ years in clinical (N = 74, average age 40 months, 26-51 months) and community settings (N = 357, average age 39 months, 25-50 months) in Japan.

Spatial working memory encoding type modulates prefrontal cortical activity.

Spatial working memory (SWM) involves both simultaneous and sequential encoding, but the differences in their neural correlates are unclear. We investigated the differences in prefrontal cortex activity related to these SWM encoding types. We also examined the patterns of brain activity influencing individual visuospatial abilities (VSA).

Cerebrospinal fluid neural cell adhesion molecule levels and their correlation with clinical variables in patients with schizophrenia, bipolar disorder, and major depressive disorder.

Purpose: Neural cell adhesion molecule (NCAM) plays an important role in neural plasticity, and its altered function has been implicated in psychiatric disorders. However, previous studies have yielded inconsistent results on cerebrospinal fluid (CSF) NCAM levels in psychiatric disorders. The aim of our study was to examine CSF NCAM levels in patients with schizophrenia, bipolar disorder (BD), and major depressive disorder (MDD), and their possible relationship with clinical variables.

Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome.

Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre.

The neurotoxicity of amyloid β-protein oligomers is reversible in a primary neuron model.

Alzheimer's disease (AD) is characterized by the accumulation of extracellular amyloid β-protein (Aβ) and intracellular hyperphosphorylated tau proteins. Recent evidence suggests that soluble Aβ oligomers elicit neurotoxicity and synaptotoxicity, including tau abnormalities, and play an initiating role in the development of AD pathology. In this study, we focused on the unclarified issue of whether the neurotoxicity of Aβ oligomers is a reversible process.

Attention-deficit/hyperactivity disorder symptoms and loneliness among adults in the general population.

Background: Research on the association between adult attention-deficit/hyperactivity disorder (ADHD) and loneliness is scarce even though factors which have been previously linked to loneliness, such as divorce and poorer mental health may be more prevalent among adults with ADHD. This study investigated the relation between ADHD symptoms/symptom severity and loneliness in the general adult population.

Methods: Data from the Adult Psychiatric Morbidity Survey 2007 (N=7403, aged ≥16years) were analyzed.

Uniqueness of action monitoring in children with autism spectrum disorder: Response types and temporal aspects.

Background: Action monitoring, the process for evaluating the appropriateness of one's own actions, is reported to be atypical in individuals with autism spectrum disorder (ASD).

Method: We examined the characteristics of action monitoring in 11 children with ASD and 12 children with typical development (TD), analyzing stimulus-locked and response-locked event-related potential components (i.e.

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.

Background: Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved.

The experience of electroconvulsive therapy and its impact on associated stigma: A meta-analysis.

Background: Despite its efficacy and safety, electroconvulsive therapy (ECT) is underutilized, in part due to stigma associated with the treatment.

Aims: The aim of this study was to test the hypothesis that experiencing ECT has an impact on associated stigma, as measured by patient and family knowledge of and attitudes toward ECT.

Methods: A comprehensive literature search was conducted using MEDLINE, EMBASE and PsycINFO.

Novel mutation in HPRT1 causing a splicing error with multiple variations.

Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND.

Endogenous Multiple Exon Skipping and Back-Splicing at the DMD Mutation Hotspot.

Duchenne muscular dystrophy (DMD) is a severe muscular disorder. It was reported that multiple exon skipping (MES), targeting exon 45-55 of the gene, might improve patients' symptoms because patients who have a genomic deletion of all these exons showed very mild symptoms. Thus, exon 45-55 skipping treatments for DMD have been proposed as a potential clinical cure.

Generation of a novel transgenic rat model for tracing extracellular vesicles in body fluids.

Extracellular vesicles (EVs) play an important role in the transfer of biomolecules between cells. To elucidate the intercellular transfer fate of EVs in vivo, we generated a new transgenic (Tg) rat model using green fluorescent protein (GFP)-tagged human CD63. CD63 protein is highly enriched on EV membranes via trafficking into late endosomes and is often used as an EV marker.

Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle.

Skeletal muscle contains two distinct stem/progenitor populations. One is the satellite cell, which acts as a muscle stem cell, and the other is the mesenchymal progenitor, which contributes to muscle pathogeneses such as fat infiltration and fibrosis. Detailed and accurate characterization of these progenitors in humans remains elusive.

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.

Danon disease, primary lysosome-associated membrane protein-2 (LAMP-2) deficiency, is characterized clinically by cardiomyopathy, myopathy and intellectual disability in boys. Because Danon disease is inherited in an X-linked dominant fashion, males are more severely affected than females, who usually have only cardiomyopathy without myopathy or intellectual disability; moreover, the onset of symptoms in females is usually in adulthood. We describe a girl with Danon disease who presented with hypertrophic cardiomyopathy and Wolff-Parkinson-White (WPW) syndrome at 12 years of age.

Negative regulation of microRNA-132 in expression of synaptic proteins in neuronal differentiation of embryonic neural stem cells.

MicroRNAs (miRs) play important roles in neuronal differentiation, maturation, and synaptic function in the central nervous system. They have also been suggested to be implicated in the pathogenesis of neurodegenerative and psychiatric diseases. Although miR-132 is one of the well-studied brain-specific miRs, which regulates synaptic structure and function in the postnatal brain, its function in the prenatal brain is still unclear.

Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.

Objective: To identify the genetic cause of isolated inclusion body myopathy (IBM) with autosomal dominant inheritance in 2 families.

Methods: Genetic investigations were performed using whole-exome and Sanger sequencing of the heterogeneous nuclear ribonucleoprotein A1 gene (hnRNPA1). The clinical and pathologic features of patients in the 2 families were evaluated with neurologic examinations, muscle imaging, and muscle biopsy.

Disrupted balance of T cells under natalizumab treatment in multiple sclerosis.

Objective: To compare effects of natalizumab on inflammatory and regulatory T cells with regard to expression of α4-integrin (CD49d).

Methods: Twenty-seven natalizumab-naive and 8 natalizumab-treated patients with multiple sclerosis (MS), 7 patients with neuromyelitis optica (NMO) or NMO spectrum disorder, and 8 healthy controls were included. The positive rate of CD49d was analyzed and compared among T helper 1 (Th1), T helper 17 (Th17), and regulatory T (Treg) cells (CD49d+Th1, CD49d+Th17, and CD49d+Treg, respectively).

Applicability of the Movement Assessment Battery for Children-Second Edition to Japanese children: A study of the Age Band 2.

Background: The diagnosis of Developmental Coordination Disorder (DCD) requires a precise assessment of motor skills via a standardized tool such as the Movement Assessment Battery for Children-Second Edition (MABC-2). Although the MABC-2 has been widely used in English-speaking countries, to the best of our knowledge, no studies have examined its applicability to Japanese children. Thus, it has been difficult to diagnose DCD in Japan.

The Association between Children's Behavior and Parenting of Caregivers: A Longitudinal Study in Japan.

The purpose of this study was to elucidate the association between children's behavior (i.e., prosocial and problematic behavior) and the parenting style (i.

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis. Multiplex ligation-dependent probe amplification (MLPA) has been used as the initial diagnostic test of choice.

The inactivation of extracellular signal-regulated kinase by glucagon-like peptide-1 contributes to neuroprotection against oxidative stress.

Glucagon-like peptide-1 (GLP-1), an insulinotropic peptide secreted from enteroendocrine cells, has been known to have a neuroprotective effect. However, it is not fully understood the intracellular mediator of GLP-1 signaling in neuronal cells. In the present study, we examined the change in intracellular signaling of cortical neurons after GLP-1 application and luminal glucose stimulation in vitro and in vivo.